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CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 782, updated on 11-Jun-2021

Summary

Official Symbol
CACNB1provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:1401
See related
Ensembl:ENSG00000067191 MIM:114207
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAB1; CCHLB1; CACNLB1
Summary
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 12.9), skin (RPKM 4.4) and 17 other tissues See more
Orthologs
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Genomic context

See CACNB1 in Genome Data Viewer
Location:
17q12
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39173453..39197669, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37329706..37353922, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Cys (anticodon GCA) 2-4 Neighboring gene ADP ribosylation factor like GTPase 5C Neighboring gene uncharacterized LOC105371768 Neighboring gene ribosomal protein L19 Neighboring gene SH3 and cysteine rich domain 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC41896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated calcium channel activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit beta-1
Names
calcium channel voltage-dependent subunit beta 1
calcium channel, L type, beta 1 polypeptide
calcium channel, voltage-dependent, beta 1 subunit
dihydropyridine-sensitive L-type, calcium channel beta-1 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052811.1 RefSeqGene

    Range
    5035..29251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000723.5NP_000714.3  voltage-dependent L-type calcium channel subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_000714.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as beta-1b2, betaA, and beta-1B, encodes the longest isoform (1).
    Source sequence(s)
    AC004408, AK289729, BC037311
    Consensus CDS
    CCDS42311.1
    UniProtKB/Swiss-Prot
    Q02641
    Related
    ENSP00000377840.3, ENST00000394303.8
    Conserved Domains (4) summary
    smart00072
    Location:238409
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:228408
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5899
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17036
    Location:99166
    SH3; Src Homology 3 domain superfamily
  2. NM_199247.3NP_954855.1  voltage-dependent L-type calcium channel subunit beta-1 isoform 2

    See identical proteins and their annotated locations for NP_954855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as beta-1M, betaC, and beta-1a, differs in the 3' UTR and has multiple coding region differences, compared to variant 1. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BP217857, M76560, M92301, M92302
    Consensus CDS
    CCDS11334.1
    UniProtKB/Swiss-Prot
    Q02641
    Related
    ENSP00000345461.5, ENST00000344140.5
    Conserved Domains (4) summary
    cd12041
    Location:99166
    SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1
    pfam00625
    Location:273453
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5899
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:283454
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. NM_199248.3NP_954856.1  voltage-dependent L-type calcium channel subunit beta-1 isoform 3

    See identical proteins and their annotated locations for NP_954856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as beta-1b1, betaB, and beta-1c, differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BP217857, M76560, M92302
    Consensus CDS
    CCDS45665.1
    UniProtKB/Swiss-Prot
    Q02641
    Related
    ENSP00000377847.3, ENST00000394310.7
    Conserved Domains (4) summary
    cd12041
    Location:99166
    SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1
    pfam00625
    Location:228408
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5899
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:238409
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    39173453..39197669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257645.2XP_005257702.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X1

    Conserved Domains (4) summary
    smart00072
    Location:283454
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:273453
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5899
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17036
    Location:99166
    SH3; Src Homology 3 domain superfamily
  2. XM_017025028.2XP_016880517.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

    Conserved Domains (2) summary
    smart00072
    Location:10181
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
  3. XM_024450920.1XP_024306688.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

    Conserved Domains (1) summary
    pfam00625
    Location:61241
    Guanylate_kin; Guanylate kinase
  4. XM_017025027.1XP_016880516.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

    Conserved Domains (2) summary
    smart00072
    Location:10181
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
  5. XM_017025026.1XP_016880515.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

    Conserved Domains (1) summary
    pfam00625
    Location:61241
    Guanylate_kin; Guanylate kinase
  6. XM_017025029.1XP_016880518.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

    Conserved Domains (2) summary
    smart00072
    Location:10181
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
  7. XM_017025025.1XP_016880514.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X4

  8. XM_006722072.2XP_006722135.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X3

    Conserved Domains (4) summary
    smart00072
    Location:236407
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:226406
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1152
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17036
    Location:52119
    SH3; Src Homology 3 domain superfamily
  9. XM_017025024.1XP_016880513.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X2

  10. XM_017025030.1XP_016880519.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X8

  11. XM_005257646.3XP_005257703.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X6

    Conserved Domains (3) summary
    pfam12052
    Location:5899
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17036
    Location:99166
    SH3; Src Homology 3 domain superfamily
    cl17190
    Location:283396
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
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